Sacide Pehlivan, Sibel Oguzkan balci, Serhat Inaloz, Ercan Kucukosmanoglu, Tugce Sever, Ozlem Keskin, Aslihan Gulel, Kamile Erciyas

Might there be a link between high expression of interleukine 10 and Netherton Syndrome?

Netherton Syndrome (NS) is a rare autosomal recessive disorder, characterized by congenital ichthyosiform erythroderma, trichorrhexis invaginata and severe atopic diathesis. Considering that cytokines are involved in NS pathogenesis and that cytokine gene polymorphism may affect cytokine production, our purpose was to investigate the association between NS and IL-6, IL-10, IFN-γ, TGF-β1 and TNF-α polymorphisms. Cytokine genotyping and haplotyping were performed in a family with NS by PCR-SSP method. We observed GCC GCC haplotype of IL-10 gene in proband with NS and no association with all other polymorphisms. We conclude that GCC GCC haplotypes of IL-10 gene polymorphisms (-1082 A/G, -819 T/C, -592 C/A) have been associated with NS. In this study, pleiotropic effects in immunoregulation and inflammation with high expression of IL-10 gene in the nether shown for the first time in the literature.

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